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pregnancy

Curveball

So, everything was going great with this pregnancy until about 8:30 AM yesterday. I got a phone call from my doctor’s office with the results of a genetic screening test I’d done a few weeks ago. Basically, you spit into this little container and they send it off to be tested for over 400 genetic diseases. We weren’t required to do the test, but we thought it might be nice to know what I’m at risk of passing on to our kids. Well, after the phone call yesterday, I was regretting doing the test at all.

It’s not the end of the world. It’s really not. Out of all the possible genetic diseases I was tested for, I’m a carrier of only two of them. One is called pseudocholinesterase deficiency. This is a disease that affects the way your body breaks down certain drugs used in anesthesia. Since I’m a carrier, that means I have one mutated copy and one normal copy of the gene. I am not as affected by this disease as someone would be who has two mutated copies. There is a chance of passing this on to our kids, but it’s not really a big deal if the anesthesiologist is aware of it before surgery. This disease doesn’t affect me being pregnant at all.

The other genetic disease that I’m a carrier for is something called factor V leiden thrombophilia. This disease increases your risk of developing blood clots.  Again, I’m only a carrier of this disease, so that means I have one mutated copy and one normal copy of the gene. (By the way, according to what I’ve read, between 3-8% of all Caucasians are carriers of factor V leiden. Most people just don’t know they are.) This means I’m at a slightly higher risk than normal of developing a blood clot. Your risk increases significantly if you have two copies of the mutation. Unfortunately, just being pregnant alone has been shown to increase the risk of developing a blood clot, so that means my risk is even higher. Blood clots during pregnancy can cause miscarriage and other problems. The bottom line is that my doctor wants me to give myself Lovenox injections once a day for the rest of the pregnancy and even 6 weeks after delivery. Lovenox is a blood thinner so it decreases your risk of a blood clot.

When the girl from the doctor’s office called me yesterday to tell me all that, I was obviously freaked out. At least, when she mentioned giving myself shots every day. (I know…I’m a nurse…). She wanted to call in the prescription to my pharmacy so that I could start the shots right away. I told her that I wasn’t comfortable with that until I talked to the doctor myself. My next appointment was scheduled for this coming Monday (the 27th), so I asked her if I could wait until Monday to talk to the doctor and then start the shots. She said that I really needed to go ahead and start the shots, so I should just come on into the office right away. That’s when I really started freaking out. The way she said it just made it sound like an emergency. So, I hurried up and got ready and called Travis, and we met at the office at 10 AM.

I was so flustered when I was getting ready and rushing to the office that I didn’t even consider the fact that they might just do my “regular appointment” while I was there instead of having me come back on Monday (just a few days later). We were planning to do a quick ultrasound Monday to confirm the gender, but we didn’t even think about bringing our “top secret” envelope from last week’s appointment with us. Oops! What we ended up doing was just letting them right down “boy” or “girl” in another envelope since we didn’t have the first one with us. SO….now we have two envelopes and we don’t know if they agree with one another or not!!! This is getting complicated :) I guess what we’ll do is give the envelopes to our cake maker, and if they both say the same thing, we’ll proceed with the party. If not, we’ll wait 4 more weeks for our “anatomy scan”. Yesterday, they said they were 90% sure, and last week 95%, so the odds are pretty good I think!

After talking with the doctor, I felt better about doing the injections, but it still makes me nervous. Obviously, blood thinners increase your risk of bleeding, which doesn’t seem like a good idea while pregnant. I’d rather not bleed to death during delivery or before that. Of course, I don’t really want a blood clot either. I guess it’s just bad either way. Not to mention the idea of giving myself a shot every day just makes me upset. I know I can do it because I’ve done it twice (once yesterday and once today), but I’m not happy about it. The needle doesn’t hurt, but the medicine itself REALLY hurts. Both times so far I’ve gotten a good cry in right afterward and then eaten a bowl of ice cream. Very therapeutic! :) I guess I’ll be going through a lot of tissues and ice cream until about March or April. I guess maybe I’m feeling sorry for myself, but this is just making me dread the next several months. I can’t imagine doing this every day. Even though I don’t like giving myself the shots, I could handle that if I wasn’t worried about excessive bleeding. But, apparently, a lot of pregnant women do these injections, so I’m not alone. I just didn’t see this coming at all. I guess that’s what I get for being “curious” and doing an optional screening test. Hopefully the next few months will go smoothly and we’ll have a healthy baby to show for it…then it will be worth it! I’m just hoping not to be too black and blue from all the bruises by the end of this. So far, the injection site yesterday hasn’t bruised, so maybe I’ll do ok :)

So there’s my exciting news! My advice to anyone considering genetic testing is to be prepared for the possibility of shocking results. I guess I wasn’t even contemplating something like this, so it really caught me off guard. Some people probably prefer to just be ignorant and not know anything. I guess it’s too late for that for me!

Today I’m 14 weeks along and feeling pretty great physically. I’m over the cold/sinus problems I had for about a week, so no more coughing!!! Hooray! I actually weighed a couple of pounds less yesterday at the office than I did at my last appointment, so I guess I’m not eating enough ice cream, right? :) It was probably just water weight, but it was surprising to not weigh more considering the fact the I’m starting to get a little baby bump!

13 weeks
14 weeks

This weekend should be pretty relaxing…except for tomorrow morning. It’s time for the kitties’ annual check-up and shots!!! The most stressful part will be catching Felix and getting him into the crate. Hopefully, he and Gabby will do just fine. Then, we’re babysitting the Hester kids tomorrow night. We’re looking forward to that!! Surely if we can handle 4 kids at one time, we can manage one of our own in a few months. Right? :)

By Erin

Author of Trav and Erin + 3
Travis's wife
Mom of 3 wonderful girls
Very blessed!

3 replies on “Curveball”

>I'm so sorry you got stressful results. We decided we don't want any testing at all besides the 20 week anatomical ultrasound. Chances are, if you hadn't gotten the testing, you would have been completely fine. Be sure (and I know I'm talking to a nurse, but you're baby's health is at stake so I have to say it anyway) and do a LOT of research about the side effects of the drug you're on. Just because your OB says it's okay doesn't make it okay. There are always risks and benefits; you and Travis just have to make sure that you feel the benefits are higher than the risks.

Sorry if I'm not helping… I just feel strongly about medical intervention and educating ourselves about what our doctors say, because they aren't all-knowing, even if they are well-intentioned.

Will be praying for you and your little one!

>Thanks Stephanie! I definitely did a lot of research, and I actually talked to several ladies who did the injections during their pregnancies, including one who is a pharmacist. Lovenox doesn't cross the placenta, so it won't have any effects on the baby. That made me feel better!

I don't regret doing the testing just in case it would have caused a problem in the future. A lot of women have multiple miscarriages before finding out that they have some kind of clotting problem, so I'm lucky not to have gone through that! We just wanted to be aware of anything possible issues that could come up….I guess I just wasn't expecting something like this! :)

Hope you're still doing well!!

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